Gene Identification For Keratoconus - A Blinding Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$912,880.00
Summary
Keratoconus is a common eye disease where the cornea at the front of the eye progressively becomes thinner and bulges out, resulting in severe visual impairment in young people. This project is investigating the genetic causes of keratoconus in a large collection of Australian patients. We aim to be better able to predict who will develop the disease and treat them earlier, as well as be able to target treatments to the causes of disease.
Using cutting edge sequencing and genotyping technology, genes causing common and rare human diseases will be identified, and genetic methods developed to diagnose genetic diseases in both antenatal and postnatal life. Treatments for common rheumatic diseases affecting tens of thousands of Australians will be developed informed by these genetic findings.
Defining The Role Of Genetic Variants In Systemic Lupus Erythematosus: Copy Number Variants And Epigenetic Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$338,625.00
Summary
Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease associated with increased risk of mortality, severely impacting the quality of life for those affected. A large number of genes have been implicated in SLE susceptibility, however we know little of the genetic mechanisms proceeding disease onset. This project uses state of the art technology to define the role of genetic variants in SLE susceptibility and identify their importance across patients of different ethnic backgrounds.
Solving The Causes Of And Development Of New Therapies For Ankylosing Spondylitis And Related Diseases
Funder
National Health and Medical Research Council
Funding Amount
$863,910.00
Summary
Ankylosing spondylitis (AS) is a highly heritable and common form of arthritis affecting primarily the spine and pelvis, and is the 2nd most common form of arthritis worldwide (~0.55%). In this fellowship I will extend my world-leading program of AS research by increasing understanding of its basic causes through research into its genetic and environmental triggers, and from this develop new treatments for this and related diseases such as psoriasis and inflammatory bowel disease.
Constructing Control Samples For The Australian And Other Populations: Improving Power And False Positive Rates In The Next Generation Of Genetic Association Studies With A Focus On Controlling For Fine-scale Population Structure In DNA Sequence Data
Funder
National Health and Medical Research Council
Funding Amount
$283,447.00
Summary
Individuals who live near each other tend to be more similar genetically than individuals who live in different parts of the world. One reason is that they share more of their genetic ancestry. There can be very subtle differences in patterns of genetic variation even within countries. Accounting for these subtle differences can be important for studies of the genetic basis of diseases. We will develop novel statistical methods to control for these genetic differences in disease studies.
The Genetic Study Of Diabetic Retinopathy Risk In Type 1 Diabetes Mellitus
Funder
National Health and Medical Research Council
Funding Amount
$32,628.00
Summary
Type 1 diabetes is a disorder leading to high blood sugars, which can damage the small blood vessels of the the back of the eye and potentially lead to blindness. However not all diabetics will develop blinding eye disease. Our project aims to find the genes that contribute to the development of blinding diabetic eye disease so that patients who carry the genes can be managed and treated appropriately. This will help to reduce the incidence of blindness related to diabetic eye disease.
Schizophrenia Under The Genomic Lens: Next Generation Sequencing Of Western Australian Families With Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$991,659.00
Summary
We will perform whole genome sequencing of 376 members of 88 Western Australian families, including 113 individuals with a diagnosis of schizophrenia. We will use the sequence data to conduct a gene-cenric analysis of rare genomic variants likely to contribute to schizophrenia risk in these families.
Genetic Analysis Of The Relationship Between Parental Age And Risk Of Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$301,012.00
Summary
Age-related de novo mutations are widely assumed to explain the association between advanced paternal age and risk of psychiatric illness, but this mechanism cannot explain the known risk to offspring of teenaged parents. We will investigate an alternative hypothesis for risk to children due to parental age, which is that elevated liability to mental illness, arising from shared genetic factors between parents and offspring, leads to delayed, or conversely teenage, parenthood.
Understanding The Etiology Of Psychiatric Disorders Through Whole Genome Analyses
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Psychiatric disorders exert a huge social and economic burden on society. In recent years, large genetic studies have led to important new insights into these disorders. Major new human genomics resources will soon become available. My research will take advantage of these datasets to investigate the genetic basis of key epidemiological features of psychiatric disorders, including risk due to parental age and sex-biased prevalence, and to identify novel risk genes for schizophrenia and autism.
Genetics Of DNA Methylation And Its Role In Disease Susecptibility
Funder
National Health and Medical Research Council
Funding Amount
$428,065.00
Summary
DNA methylation is a chemical modification to DNA that sits on the interface of an individual's genetics and environment, which is critical for regulating many cellular processes. There is increasing evidence for a major role of variation in DNA methylation in development of disease and it provides a potential therapeutic target. This research will fill fundamental gaps in our knowledge of the genetic and environmental control of differences in levels of DNA methylation in the population.